Generation and characterization of novel induced pluripotent stem cell (iPSC) lines derived from three symptomatic carriers of a pathogenic MYH11 variant and two non-carrier relatives
A novel pathogenic variant in the MYH11 gene (c.4559+1G>A) leading to exon 32 skipping, is a rare cause of familial aortic aneurysms and dissections (fTAAD). The phenotype has proven highly variable with reduced penetrance. Here, we report human induced pluripotent stem cell (iPSC) lines, generat...
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| Format: | Article |
| Language: | English |
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Elsevier
2025-02-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506124003283 |
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| author | Aria Atash Maarten Jan Cramer Barend Mees Pieter A. Doevendans Joost P.G. Sluijter Francesca Stillitano |
| author_facet | Aria Atash Maarten Jan Cramer Barend Mees Pieter A. Doevendans Joost P.G. Sluijter Francesca Stillitano |
| author_sort | Aria Atash |
| collection | DOAJ |
| description | A novel pathogenic variant in the MYH11 gene (c.4559+1G>A) leading to exon 32 skipping, is a rare cause of familial aortic aneurysms and dissections (fTAAD). The phenotype has proven highly variable with reduced penetrance. Here, we report human induced pluripotent stem cell (iPSC) lines, generated from peripheral blood mononuclear cells (PBMCs) of three variant carriers and two non-carrying family members. Each iPSC line exhibited typical iPSC morphology and expressed positive markers for pluripotency and tri-lineage differentiation. These cell lines offer a platform for in vitro investigation of the unknown fTAAD pathophysiology and testing of therapeutical agents for aneurysm growth attenuation. |
| format | Article |
| id | doaj-art-fc5b1d7de6c6485b8f4a20fd4816e0b3 |
| institution | Kabale University |
| issn | 1873-5061 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj-art-fc5b1d7de6c6485b8f4a20fd4816e0b32025-01-13T04:18:40ZengElsevierStem Cell Research1873-50612025-02-0182103630Generation and characterization of novel induced pluripotent stem cell (iPSC) lines derived from three symptomatic carriers of a pathogenic MYH11 variant and two non-carrier relativesAria Atash0Maarten Jan Cramer1Barend Mees2Pieter A. Doevendans3Joost P.G. Sluijter4Francesca Stillitano5Department of Cardiology, Laboratory of Experimental Cardiology, University Medical Center Utrecht, Utrecht University, Utrecht, the NetherlandsDepartment of Cardiology, Laboratory of Experimental Cardiology, University Medical Center Utrecht, Utrecht University, Utrecht, the NetherlandsMaastricht University Medical Center, Department of Vascular Surgery, MaastrichtDepartment of Cardiology, Laboratory of Experimental Cardiology, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands; Regenerative Medicine Utrecht, Circulatory Health Research Center, Utrecht University, Utrecht, the Netherlands; Netherlands Heart Institute, Utrecht, the Netherlands; Central Military Hospital, the NetherlandsDepartment of Cardiology, Laboratory of Experimental Cardiology, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands; Regenerative Medicine Utrecht, Circulatory Health Research Center, Utrecht University, Utrecht, the NetherlandsDepartment of Cardiology, Laboratory of Experimental Cardiology, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands; Regenerative Medicine Utrecht, Circulatory Health Research Center, Utrecht University, Utrecht, the Netherlands; Netherlands Heart Institute, Utrecht, the Netherlands; Corresponding author.A novel pathogenic variant in the MYH11 gene (c.4559+1G>A) leading to exon 32 skipping, is a rare cause of familial aortic aneurysms and dissections (fTAAD). The phenotype has proven highly variable with reduced penetrance. Here, we report human induced pluripotent stem cell (iPSC) lines, generated from peripheral blood mononuclear cells (PBMCs) of three variant carriers and two non-carrying family members. Each iPSC line exhibited typical iPSC morphology and expressed positive markers for pluripotency and tri-lineage differentiation. These cell lines offer a platform for in vitro investigation of the unknown fTAAD pathophysiology and testing of therapeutical agents for aneurysm growth attenuation.http://www.sciencedirect.com/science/article/pii/S1873506124003283 |
| spellingShingle | Aria Atash Maarten Jan Cramer Barend Mees Pieter A. Doevendans Joost P.G. Sluijter Francesca Stillitano Generation and characterization of novel induced pluripotent stem cell (iPSC) lines derived from three symptomatic carriers of a pathogenic MYH11 variant and two non-carrier relatives Stem Cell Research |
| title | Generation and characterization of novel induced pluripotent stem cell (iPSC) lines derived from three symptomatic carriers of a pathogenic MYH11 variant and two non-carrier relatives |
| title_full | Generation and characterization of novel induced pluripotent stem cell (iPSC) lines derived from three symptomatic carriers of a pathogenic MYH11 variant and two non-carrier relatives |
| title_fullStr | Generation and characterization of novel induced pluripotent stem cell (iPSC) lines derived from three symptomatic carriers of a pathogenic MYH11 variant and two non-carrier relatives |
| title_full_unstemmed | Generation and characterization of novel induced pluripotent stem cell (iPSC) lines derived from three symptomatic carriers of a pathogenic MYH11 variant and two non-carrier relatives |
| title_short | Generation and characterization of novel induced pluripotent stem cell (iPSC) lines derived from three symptomatic carriers of a pathogenic MYH11 variant and two non-carrier relatives |
| title_sort | generation and characterization of novel induced pluripotent stem cell ipsc lines derived from three symptomatic carriers of a pathogenic myh11 variant and two non carrier relatives |
| url | http://www.sciencedirect.com/science/article/pii/S1873506124003283 |
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